Canonical Allele Identifier: CA199980

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 191576
• ClinVar RCV Id: RCV000171823 ; RCV000228099 ; RCV000250468 ; RCV000756673 ; RCV000852949 ; RCV001094617
• dbSNP Id: rs75025585
• ExAC: 20:32026826 C / T
• gnomAD v2: 20-32026826-C-T
• gnomAD v3: 20-33439020-C-T
• gnomAD v4: 20-33439020-C-T
• MyVariant Identifiers: chr20:g.32026826C>T (hg19) ; chr20:g.33439020C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33439020C>T , CM000682.2:g.33439020C>T	GRCh38
NC_000020.10:g.32026826C>T , CM000682.1:g.32026826C>T	GRCh37
NC_000020.9:g.31490487C>T	NCBI36
NG_011622.1:g.9873G>A , LRG_332:g.9873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.317G>A MANE Select	ENSP00000217381.2:p.Arg106Gln
ENST00000217381.2:c.317G>A	ENSP00000217381.2:p.Arg106Gln
NM_003098.2:c.317G>A , LRG_332t1:c.317G>A	NP_003089.1:p.Arg106Gln
XM_005260517.1:c.317G>A	XP_005260574.1:p.Arg106Gln
XM_011529007.1:c.317G>A	XP_011527309.1:p.Arg106Gln
XM_011529008.1:c.317G>A	XP_011527310.1:p.Arg106Gln
XR_936612.1:n.550G>A
XM_024451971.1:c.-11G>A	XP_024307739.1:n.-11G>A
NM_003098.3:c.317G>A MANE Select	NP_003089.1:p.Arg106Gln